免疫原
Synthesized phospho-peptide around the phosphorylation site of human BRCA2 (phospho Ser3291)
特异性
Phospho-BRCA2 (S3291) Monoclonal Antibody detects endogenous levels of BRCA2 protein only when phosphorylated at S3291.
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景（Background）
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008],
功能
disease:Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) [MIM:612555, 114480]; also called susceptibility to familial breast-ovarian cancer type 2 (BROVCA2). BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer.,disease:Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi anemia [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.,function:Involved in double-strand
蛋白名称
Breast cancer type 2 susceptibility protein
其他名称
BRCA2; FACD; FANCD1; Breast cancer type 2 susceptibility protein; Fanconi anemia group D1 protein
Fields
>>Homologous recombination;>>Fanconi anemia pathway;>>Pathways in cancer;>>Pancreatic cancer;>>Breast cancer
细胞定位
Nucleus . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Colocalizes with ERCC5/XPG to nuclear foci following DNA replication stress. .
组织表达
Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
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